Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency

David, Odeya; Kristal, Eyal; Ling, Galina; Broides, Arnon; Hadad, Nurit; Shubinsky, George; Nahum, Amit

doi:10.1007/s10875-022-01380-9

Cited by 4 publications

(8 citation statements)

References 21 publications

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“…Only six studies were made within multi-countries (n = 6) [ 10 , 33 , 35 , 51 , 95 , 132 ]. The majority of the studies were single centre [ 4 – 6 , 8 , 9 , 19 , 25 – 32 , 34 , 37 – 39 , 41 , 43 – 47 , 49 , 50 , 52 – 60 , 62 , 64 , 66 – 69 , 71 , 72 , 75 – 80 , 82 – 84 , 86 – 90 , 93 , 94 , 96 , 98 – 117 , 119 – 131 ] and only 23 studies were multi-centre [ 7 , 10 , 33 , 35 , 36 , 40 , 42 , 48 , 51 , 61 , 63 , 65 , 70 , 73 , 74 , 81 , 85 , 91 , 92 , 95 , 97 , 118 , 132 ]. Among all included studies in our systematic review, only one study reported on the other potential modifiers in immunity-related pathways for all diagnosed IEIs in children who were infected with SARS-CoV-2 (n = 1, 0.9%) […”

Section: Resultsmentioning

confidence: 99%

“…Among them, 40 have DiGeorge syndromes (31.7% of all syndromic combined immunodeficiencies) [ 46 , 56 , 63 , 65 , 81 , 92 , 95 , 97 , 108 ], 25 have immunodeficiency with ataxia-telangiectasia (19.8%) [ 34 , 46 , 48 , 52 , 62 – 64 , 73 , 74 , 81 , 97 , 108 , 117 , 118 , 124 ], and 14 have Wiskott-Aldrich syndromes (WAS) (11.1%) [ 5 , 40 , 46 , 48 , 63 , 65 , 81 , 95 , 99 , 124 ]. The remaining 47 patients have Nijmegen breakage syndromes (n = 9) [ 81 , 108 ]; immunodeficiencies with centromeric instability and facial anomalies (n = 6) [ 19 , 34 , 48 , 73 ]; ARPC1B deficiency (n = 3) [ 39 , 40 , 95 ]; STIM1 deficiencies (n = 2) [ 34 , 74 ]; anhidrotic ectodermodysplasia with immunodeficiency caused by hypomorphic mutations in encoding the nuclear factor κB essential modulator (NEMO) protein (n = 2) [ 30 , 73 ]; hypoparathyroidism-retardation-dysmorphism syndromes (n = 3) [ 47 ]; MCM4 deficiencies (n = 2) [ 62 ]; Kabuki syndrome (n = 2) [ 63 , 108 ]; PGM3 deficiency (n = 2) [ 76 , 95 ]; ORAI-1 deficiency (n = 1) [ 125 ]; TBX1 deficiency (n = 1) [ 19 ]; Bloom syndrome (n = 1) [ 46 ]; Schimke immuno-osseous dysplasia (n = 1) [ 46 ]; unspecified hyper IgM syn...…”

Section: Resultsmentioning

confidence: 99%

“…For patients with combined immunodeficiencies with associated or syndromic features who acquired SARS-CoV-2, the median interquartile range (IQR) age was 90 months [25.7 to 142.5], with a male predominance [n = 61, 48.4%] [ 34 , 46 – 48 , 52 , 56 , 62 , 64 , 65 , 73 , 74 , 108 , 112 , 117 , 118 , 125 ], and majority of the patients belonged to White (Caucasian) (n = 91, 72.2%) [ 5 , 30 , 46 , 52 , 62 – 64 , 73 , 76 , 81 , 95 , 97 , 108 , 118 , 123 , 124 ], Persian (n = 18, 14.3%) [ 19 , 34 , 48 , 74 , 112 , 117 ] and Hispanic (n = 11, 8.7%) [ 39 , 40 , 56 , 65 , 95 , 125 ] ethnicity. In those combined immunodeficiencies with associated or syndromic features patients, few studies reported on specific allele changes (n = 5, 4%) [ 39 , 47 , 62 , 99 , 125 ]. Reported modes of inheritance for the combined immunodeficiencies with associated or syndromic features in children were autosomal recessive (n = 61, 48.4%) [ 19 , 34 , 39 , 40 , 46 – 48 , 52 , 62 – 64 , 73 , 74 , 76 , …”

Section: Resultsmentioning

confidence: 99%

“…Most children with combined immunodeficiencies with associated or syndromic features did not get MIS-C due to COVID-19 (105/126, 83.3%) [ 5 , 19 , 34 , 39 , 40 , 46 , 48 , 52 , 56 , 63 – 65 , 73 , 76 , 81 , 92 , 95 , 97 , 99 , 108 , 112 , 117 , 123 , 124 ], however, few children with combined immunodeficiencies with associated or syndromic features were reported to experience MIS-C (11/126, 8.7%) [ 19 , 30 , 34 , 48 , 62 , 125 ]. Few of those combined immunodeficiencies with associated or syndromic features cases presented with a previous known history of cardiopathy (n = 7) [ 46 ], chronic heart disease (n = 5) [ 56 , 63 , 65 ], chronic lung disease (n = 3) [ 40 , 64 , 124 ], post hematopoietic stem cell transplant (n = 3) [ 40 , 46 , 95 ], inflammatory bowel disease (n = 3) [ 40 , 73 ], cognitive disability (n = 3) [ 63 , 95 ], obesity (n = 3) [ 56 , 63 , 65 ], hypoparathyroidism (n = 2) [ 63 ], hypothyroidism (n = 2) [ 63 ], developmental delay (n = 2) [ 46 , 47 , 63 ], autoimmune haemolytic anaemia (n = 2) [ 34 , 74 ], vasculitis (n = 2) [ 63 , 74 ], gastroesophageal reflux disease (n = 2) [ 46 , 52 ]...…”

Section: Resultsmentioning

confidence: 99%

“…Few of those combined immunodeficiencies with associated or syndromic features cases presented with a previous known history of cardiopathy (n = 7) [ 46 ], chronic heart disease (n = 5) [ 56 , 63 , 65 ], chronic lung disease (n = 3) [ 40 , 64 , 124 ], post hematopoietic stem cell transplant (n = 3) [ 40 , 46 , 95 ], inflammatory bowel disease (n = 3) [ 40 , 73 ], cognitive disability (n = 3) [ 63 , 95 ], obesity (n = 3) [ 56 , 63 , 65 ], hypoparathyroidism (n = 2) [ 63 ], hypothyroidism (n = 2) [ 63 ], developmental delay (n = 2) [ 46 , 47 , 63 ], autoimmune haemolytic anaemia (n = 2) [ 34 , 74 ], vasculitis (n = 2) [ 63 , 74 ], gastroesophageal reflux disease (n = 2) [ 46 , 52 ], hypertension (n = 2) [ 65 ], myopathy (n = 2) [ 34 , 74 ], sepsis or septic shock (n = 2) [ 39 , 95 ] or nephrotic syndrome (n = 2) [ 34 , 74 ]. Patients who suffered combined immunodeficiencies with associated or syndromic features and experienced COVID-19 were maybe more likely to have high C-reactive protein (n = 9) [ 30 , 48 , 73 ], high erythrocyte sedimentation rate (n = 8) [ 30 , 48 , 73 , 112 ], low serum immunoglobulin M level (n = 5) [ 19 , 52 , 56 ], low serum immunoglobulin A level (n = 5) [ 19 , 47 , 52 , 99 ], neutropenia (n = 5) [ 39 , 64 , 73 , 76 ], low serum immunoglobulin G level (n = 4) [ …”

Section: Resultsmentioning

confidence: 99%

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Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review

Alhumaid,

Al Mutared,

Al Alawi

et al. 2023

Allergy Asthma Clin Immunol

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Background Inborn errors of immunity (IEIs) are considered significant challenges for children with IEIs, their families, and their medical providers. Infections are the most common complication of IEIs and children can acquire coronavirus disease 2019 (COVID-19) even when protective measures are taken. Objectives To estimate the incidence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children with IEIs and analyse the demographic parameters, clinical characteristics and treatment outcomes in children with IEIs with COVID-19 illness. Methods For this systematic review, we searched ProQuest, Medline, Embase, PubMed, CINAHL, Wiley online library, Scopus and Nature through the Preferred Reporting Items for Systematic Reviews and Meta Analyses (PRISMA) guideline for studies on the development of COVID-19 in children with IEIs, published from December 1, 2019 to February 28, 2023, with English language restriction. Results Of the 1095 papers that were identified, 116 articles were included in the systematic review (73 case report, 38 cohort 4 case-series and 1 case–control studies). Studies involving 710 children with IEIs with confirmed COVID-19 were analyzed. Among all 710 IEIs pediatric cases who acquired SARS-CoV-2, some children were documented to be admitted to the intensive care unit (ICU) (n = 119, 16.8%), intubated and placed on mechanical ventilation (n = 87, 12.2%), suffered acute respiratory distress syndrome (n = 98, 13.8%) or died (n = 60, 8.4%). Overall, COVID-19 in children with different IEIs patents resulted in no or low severity of disease in more than 76% of all included cases (COVID-19 severity: asymptomatic = 105, mild = 351, or moderate = 88). The majority of children with IEIs received treatment for COVID-19 (n = 579, 81.5%). Multisystem inflammatory syndrome in children (MIS-C) due to COVID-19 in children with IEIs occurred in 103 (14.5%). Fatality in children with IEIs with COVID-19 was reported in any of the included IEIs categories for cellular and humoral immunodeficiencies (n = 19, 18.6%), immune dysregulatory diseases (n = 17, 17.9%), innate immunodeficiencies (n = 5, 10%), bone marrow failure (n = 1, 14.3%), complement deficiencies (n = 1, 9.1%), combined immunodeficiencies with associated or syndromic features (n = 7, 5.5%), phagocytic diseases (n = 3, 5.5%), autoinflammatory diseases (n = 2, 3%) and predominantly antibody deficiencies (n = 5, 2.5%). Mortality was COVID-19-related in a considerable number of children with IEIs (29/60, 48.3%). The highest ICU admission and fatality rates were observed in cases belonging to cellular and humoral immunodeficiencies (26.5% and 18.6%) and immune dysregulatory diseases (35.8% and 17.9%) groups, especially in children infected with SARS-CoV-2 who suffered severe combined immunodeficiency (28.6% and 23.8%), combined immunodeficiency (25% and 15%), familial hemophagocytic lymphohistiocytosis (40% and 20%), X-linked lymphoproliferative diseases-1 (75% and 75%) and X-linked lymphoproliferative diseases-2 (50% and 50%) compared to the other IEIs cases. Conclusion Children with IEIs infected with SARS-CoV-2 may experience higher rates of ICU admission and mortality in comparison with the immunocompetent pediatric populations. Underlying immune defects does seem to be independent risk factors for severe SARS-CoV-2 infection in children with IEIs, a number of children with SCID and CID were reported to have prolonged infections–though the number of patients is small–but especially immune dysregulation diseases (XLP1 and XLP2) and innate immunodeficiencies impairing type I interferon signalling (IFNAR1, IFNAR2 and TBK1).

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